The glycoprotein storage disorders are inherited metabolic conditions that cause progressive decline in mental and physical abilities and lead to early death. The diseases are aspartylglucosaminuria, fucosidosis, galactosialidosis, alphamannosidosis, beta-mannosidosis, mucolipidosis II, mucolipidosis IIII, Schindler disease, and sialidosis. These diseases are neither famous nor infamous. They are collectively and individually underrepresented in patient support groups, case reports in the medical literature, and in basic and translational research. A goal of the Third International Workshop of Glycoproteinoses scientific meeting is to bring together experts who approach these conditions from different fields. Lysosomal disease research is no longer the purview of enzymologists. The geneticist who studies the neurodegeneration associated with Alzheimer's disease, the glycobiologist interested in cartilage development in zebrafish, and the pharmacologist who studies proteomics are all lysosomal disease researchers. They are unlikely to cross paths at another scientific meeting. Although metabolic diseases, including lysosomal disorders, are topics of discussion at variety of national and international meetings, only the International Workshop on Glycoproteinoses is dedicated to these disorders.

Public Health Relevance

The Third International Workshop on Glycoproteinoses will bring together the critical elements needed to move toward treatment of these rare disorders, namely scientific expertise, and patient advocacy and support. There is no other venue to bring these elements together in this way.

Agency
National Institute of Health (NIH)
Institute
National Institute of Neurological Disorders and Stroke (NINDS)
Type
Conference (R13)
Project #
1R13NS080489-01
Application #
8400331
Study Section
National Institute of Neurological Disorders and Stroke Initial Review Group (NSD)
Program Officer
Morris, Jill A
Project Start
2012-07-01
Project End
2013-06-30
Budget Start
2012-07-01
Budget End
2013-06-30
Support Year
1
Fiscal Year
2012
Total Cost
$10,000
Indirect Cost
Name
Greenwood Genetic Center
Department
Type
DUNS #
078047966
City
Greenwood
State
SC
Country
United States
Zip Code
29646